25 - The Human Genome and Neonatal Care

Abstract

Since publication of the first complete human genome sequence in 2001, the complete genomes of over 100,000 individuals have been shared with the scientific community. This has allowed characterization of millions of genetic variants. In addition to identifying common and rare variants, researchers have greatly increased understanding of gene function and regulation, and how stage of development, the environment, and clinical interventions impact gene expression and translation to functional peptides. In addition, researchers have identified mechanisms of regulation of gene expressions, such as alternative splicing and the activity of microRNAs (miRNA). With this compilation of work, the number of genetic variants identified as causative of disease, or that are strongly associated with diseases, is increasing rapidly, while the time to identify genetic variants that explain disease in infants in neonatal intensive care units (NICUs) has been reduced to days from months to years-long diagnostic odysseys. This chapter reviews components of the genome, describes tools used by researchers and clinicians seeking to identify causative genes for suspected monogenic conditions, and associations between more common genetic variants with complex, common, diseases associated with extreme prematurity. The chapter also raises questions about ethical implications and the dilemma of incidental findings that result when the large portions of the genome are sequenced.